Sporadic and hereditary primary hyperparathyroidism.

[familial hypocalciuric hypercalcemia]

Primary hyperparathyroidism (PHPT ) is a common endocrine disorder , particularly frequent in post-menopausal women . It is characterized by hypercalcemia with inappropriately high spontaneous plasma PTH . Singlegland adenoma is the most common cause (75 - 85 %). PHPT is usually a sporadic disease but in approximately <5 % of cases , a familial hyperparathyroid syndrome is diagnosed . Familial hyperparathyroidism is a clinically and genetically heterogeneous group of disorders including : multiple endocrine neoplasia (MEN ) type 1 , MEN type 2 A , MEN 4 , benign familial hypocalciuric hypercalcemia , neonatal severe hyperparathyroidism , hyperparathyroidism-jaw tumor syndrome , and familial isolated hyperparathyroidism . These syndromes show mendelian inheritance patterns and the main genes for most of them have been defined . The classic form of PHPT , which presents with hypercalcemia , kidney stones , and bone disease , is no longer common . Currently , there is an increasing interest in the subtle manifestations of PHPT , particularly the cardiovascular and neuropsychiatric manifestations . Parathyroidectomy is the definitive cure for PHPT even though patients with the asymptomatic form of the disease can be followed conservatively .

Diseases
Validation

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allergic bronchopulmonary aspergillosis

alpha-thalassemia

aniridia

aromatase deficiency

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cadasil

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congenital adrenal hyperplasia

congenital toxoplasmosis

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esophageal adenocarcinoma

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fabry disease

familial hypocalciuric hypercalcemia

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inclusion body myositis

junctional epidermolysis bullosa

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wiskott-aldrich syndrome

zellweger syndrome

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